HPIi006-A

Not yet reviewed by Australian Stem Cell Registry

RYR1-3278-R2A

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma9670
Label: Portion of blood
Definition: Portion of body substance which has as its parts plasma and blood cells.
Tissue for derived iPSC
Disease as reported (Donor)
central core myopathy
Disease as reported (External Source)
central core myopathy

Genetic Information

Genotype Locus
RYR1
Polymorphism
Heterozygous: NM_000540.3:c.7522C>T(NP_000531.2: p.Arg2508Cys)

Associated Publications

Journal Year Article
Stem cell research 2024 Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

Line Custodianship

Cell Line Maintainer

Clayton

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia
View all cell lines from this group

Cell Line Producer

Harry Perkins Institute of Medical Research

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia

Source

Donor Derived

Age: 1-4

Biological Sex: Male

Disease: MONDO:0007294
Label: central core myopathy
Definition: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.

External Cell Line

Genethon

Disease: central core myopathy

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: EFO:0022546
Label: LCL
Definition: Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast

Source Cell Origin: UBERON:0000178
Label: blood
Definition: A fluid that is composed of blood plasma and erythrocytes.

Derivation Year: 2022

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Kit: [kit] CytoTune-iPS 2.0 Sendai reprogramming kit

Detected: No

Ethics

Ethics Number: RA/4/20/1008

Institution Human Research Ethics Council: University of Western Australia Human Research Ethics Committee

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 13

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400 bphs (15 metaphase spreads were counted, 5 were analyzed).

STR analysis Results:

Performed but not available.

Genome wide or Functional Assay:

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
SOX2 RT-PCR
SOX2 Immunostaining
POU5F1 (OCT-4) Immunostaining
POU5F1 (OCT-4) RT-PCR
SSEA-4 Immunostaining
TRA 1-60 Immunostaining
NANOG RT-PCR
CRIPTO RT-PCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: Brachyury

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: OTX2

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 20%

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Growth Factor Reduced Matrigel - Corning
  • Supplement: ROCK inhibitor (Y-27632) at passage

Passage Method: Enzyme-free cell dissociation